Literature DB >> 34295225

Corrigendum: Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Lena H Nguyen1,2, Angélique Bordey1,2.   

Abstract

[This corrects the article DOI: 10.3389/fnana.2021.664695.].
Copyright © 2021 Nguyen and Bordey.

Entities:  

Keywords:  GATOR1 complex; cortical development; epilepsy; focal cortical dysplasia; in utero electroporation; mTOR; neuron migration; tuberous sclerosis complex

Year:  2021        PMID: 34295225      PMCID: PMC8290855          DOI: 10.3389/fnana.2021.715363

Source DB:  PubMed          Journal:  Front Neuroanat        ISSN: 1662-5129            Impact factor:   3.856


In the original article, there was a mistake in Table 1 as published.
Table 1

Summary of IUE-based rodent models of mTORopathies.

GeneIUE age, cortical areaMigration defect/misplacement (M), Cytomegaly (C), Dendrite overgrowth (D)Synaptic function and electrophysiological propertiesSeizure phenotypeOther phenotypesPharmacological and/or genetic rescueReferences
Pi3k iSH2-p110α (GOF)E15.5E18.5: MKonno et al., 2005
Pi3k WTE14.5E18.5: MBaek et al., 2015
*Pi3k E545K (GOF)E14.5E18.5: M, CBaek et al., 2015
*Pi3k E545K (GOF)E14-E15, SSCP15-70 L2/3 PN: No change-RMP No change-RinputNo change-I/O (rheobase)No change-AP voltage thresholdGoz et al., 2020
*Pi3k E545K (GOF)E14.5, SSC, CCP24-28: C, DP60: M, CP24-28, L2/3 PN: ↓ mIPSC frequency ↓ mIPSC amplitudeSpontaneous seizuresP60: ↓ GABAergic interneuron densityRapamycin, 2 mg/kg every 48 h, P10-P30: rescued C, D, mIPSC frequency; partially rescued GABAergic interneuron density; no rescue of M, mIPSC amplitudeZhong et al., 2021
Pten (CRISPR/Cas9 KO)E14-E15 (rat)P19: M, C, DP21-P30, L2/3 PN: ↑ mEPSC frequency ↑ sEPSC frequencyNo change-RMP ↓ RinputChen et al., 2015
Akt1 WTE14.5E16.5, E17.5, E18.5: enhanced migrationItoh et al., 2016
Akt1 mΔPH (GOF)E14.5E16.5, E17.5: MItoh et al., 2016
Akt3 WTE14.5E18.5: M, CP20: M, C~P28: Spontaneous burstsRapamycin, 3 mg/kg daily, E15.5-E18.5: rescued M, CBaek et al., 2015
*Akt3 E17K (GOF)E14.5E18.5: M, CP20: M, C~P28: Spontaneous seizuresNo microglia reactivityRapamycin, 3 mg/kg daily, E15.5-E18.5: rescued M, CRapamycin, 3 mg/kg daily, P1-P3: no rescue of MReelin siRNA or Foxg1 T271A (LOF) expression: partially rescued MBaek et al., 2015
Akt3 S472E (GOF)E14.5E18.5: MBaek et al., 2015
Tsc1floxed/mutant,Cre IUE, 2-hit modelE15-16, SSCP15: CP28: M, CP15:↓ Seizure thresholdP15, P28: No astroglial reactivityFeliciano et al., 2011
Tsc1(CRISPR/Cas9 KO)E14>P21: M, C>P21: Spontaneous seizuresLim et al., 2017
Tsc1(CRISPR/Cas9 KO)E14-E15, SSCP15-70 L2/3 PN: ↓ RMP (hyperpolarized) ↓ Rinput ↓ I/O (= ↑ rheobase) ↓ AP voltage thresholdGoz et al., 2020
Tsc2 (shRNA KD)E14E19: M, CRapamycin, 5 mg/kg daily, E15-E18: rescued M, CTsai et al., 2014
Tsc2 (shRNA KD)E13.5, E16.5E18.5, P2: MCul5 shRNA KD: rescued MMoon et al., 2015
Tsc2(CRISPR/Cas9 KO)E14E18: M>P21: M, C>P21: Spontaneous seizuresRapamycin, 10 mg/kg daily, starting after seizure onset: rescued C; ↓ seizuresLim et al., 2017
Rheb WTE13.5, E14.5, E16.5E18.5, P0, P2: MCul5 shRNA KD: rescued MMoon et al., 2015
Rheb WTE14.5, SSCP0, P7: M>P20:Spontaneous seizuresReijnders et al., 2017
Rheb WTE14.5-E16, mPFC, SSCP14: M, C, DSokolov et al., 2018
Rheb WTE14.5No seizuresZhao et al., 2019
Rheb S16H (GOF)E15, mPFCP8: MP0: ↑ Axon growth4EBP1 F113A (GOF) expression, S6K1/2 shRNA KD, or lithium chloride (GSK3 blocker), 10 mg/kg daily, E15-E19: rescued axon overgrowthGSK3βDN expression:rescued axon overgrowth; no rescue of MGong et al., 2015
Rheb S16H (GOF)E15.5, mPFCP0, P7, P28: MP24: CP28-P42: DP28-P42 L2/3 PN: ↓ Spine density ↓ sEPSC frequency ↑ RMP (depolarized)P7, P21-28: ↓ Autophagy4EBP1 F113A (GOF) expression: rescued M, C; partially rescued D; restored RMP, sEPSC frequency; no rescue of spine densityS6K1/2 shRNA KD:no rescue of MLin et al., 2016
Rheb S16H, conditional(+ DCX-Cre; expression in migrating neurons)E15.5, mPFCP7: MLin et al., 2016
Rheb S16H (GOF)E15.5, mPFCP28: C, D>P56: M>P56: Spontaneous seizures>P56: ↑ Astroglial reactivity No change in GABAergic interneuron densityRapamycin, 1 mg/kg every 48h, P1-P56: rescued M, C; ↓ seizuresHsieh et al., 2016
Rheb S16H, conditional(+ tamoxifen-inducible Cre; postnatal expression)E15.5, mPFC *P7 tamoxifen treatment>P56: C, no M>P56: Spontaneous seizuresHsieh et al., 2016
Rheb S16H (GOF)E15, mPFC>P56: M, C>P56: Spontaneous seizures>P56: ↑ Microglial reactivityNguyen et al., 2019
Rheb S16H (GOF)E15, SSCP14: M, C, DP14: ↑ Vascular densityRapamycin, 0.5 mg/kg every 48 h, P1-P14: rescued D; partially rescued M, C; ↓ vascular densityZhang et al., 2019
Rheb S16H (GOF)E15, mPFC>P28: M, C, D>P42Spontaneous seizuresFlna shRNA KD: partially rescued M, C, D; ↓ seizuresPTI-125 (Flna modulator), 6 or 12 mg/kg 2x daily, P8-28: partially rescued C, DPTI-125 (Flna modulator), 12 mg/kg 2x daily, P8-65: ↓ seizures; no rescue of MPTI-125, 12 mg/kg 2x daily, P29-54: partially rescued C, D; ↓ seizuresZhang et al., 2020
Rheb S16H (GOF)E15.5, mPFC>P84: M, CP8-12, L2/3 PN: ↑ h current P26-42, L2/3 PN: ↑ RMP (depolarized) ↓ Rinput ↓ I/O (= ↑ rheobase) ↑ h current (and ectopic HCN4 expression) ↑ Sag response>P84: Spontaneous seizuresRapamycin, 1 mg/kg every 48h, P1-P56: ↓ HCN4 expressionKir2.1 expression:↓ RMP, ↓ I/O, ↓ seizures; no rescue of C, capacitanceHCN4NF expression:↓ RMP, ↓ h current, ↓ sag response, ↓ seizures; no rescue of C, I/OHsieh et al., 2020
**Rheb P37L (GOF)E14.5, SSCP0, P7: M>P20:Spontaneous seizuresReijnders et al., 2017
**Rheb P37L (GOF)E14.5, SSCP30: M, CP25: DP21-25, L2/3 PN:No change-RMP ↑ Capacitance ↓ Rmembrane (= ↓ Rinput) ↓ I/O (= ↑ rheobase) No change-AP voltage threshold P21-25, contralateral, non-transfected L2/3 PN targeted by mutant axons: ↑ I/O, ↑ eEPSC amplitude in response to depolarizing mutant axons>P21:Spontaneous seizuresP45: ↑ Axon growthRapamycin, 1 mg/kg daily, E15.5-E16.5: partially rescued M; no rescue of seizuresRapamycin, 10 mg/kg daily, starting after seizure onset for 7 days: ↓ seizuresRheb P37L deletion (before seizure onset at P14 or after seizure onset): ↓ seizures; no rescue of MTetanus toxin light chain expression (blocks axonal projection): prevented seizuresTetanus toxin light chain expression (before seizure onset at P14; blocks vesicular release): prevented seizures, I/O changes in contralateral neurons targeted by RhebTetanus toxin light chain expression (after seizure onset at P35; blocks vesicular release): ↓ seizuresOnori et al., 2020
Rheb P37L, conditional(+ tamoxifen-inducible Cre; postnatal expression)E14.5, SSC *P7 or P21 tamoxifen treatmentNo M>P35:Spontaneous seizuresOnori et al., 2020
**Rheb S68P (GOF)E14.5, SSCP0, P7: M>P20:Spontaneous seizuresReijnders et al., 2017
*Rheb Y35L (GOF)E14.5E18.5: M, CP30: C>P30:SpontaneousseizuresRapamycin, 10 mg/kg daily, starting at P45 for 11 days: ↓ seizuresZhao et al., 2019
mTOR WTE14.5P0: No M, CKassai et al., 2014
mTOR WTE14No seizuresLim et al., 2015; Park et al., 2018; Kim et al., 2019
mTOR WTE15 (rat)E20: no MPelorosso et al., 2019
mTOR SL1+IT (GOF)E14.5P0: M, CRapamycin, 5 mg/kg, embryonic, or Raptor shRNA KD: rescued M, CS6K1/2 shRNA KD: rescued CKassai et al., 2014
mTOR SL1+IT (GOF)E13.5, SSCE17.5: MTarkowski et al., 2019
*mTOR L2427P (GOF)E14E18: M>P21: C>P21: Spontaneous seizuresRapamycin, 10 mg/kg daily, starting after seizure onset for 2 weeks: rescued C; ↓ seizuresLim et al., 2015
*mTOR L2427P (GOF)E14>P56: Defective ciliogenesis ↓ AutophagyRapamycin, 10 mg/kg daily, starting after seizure onset for 2 weeks: rescued ciliogenesisPark et al., 2018
*mTOR L2427P (GOF)E14E18, P7: MP21: CP21, L2/3 PN: ↓ Spine density>P21: Spontaneous seizuresE18: Translational dysregulationRapamycin, 5 mg/kg daily, E14-E17: rescued MeIF4E shRNA KD: rescued M, C, spine density; ↓ seizuresMetformin (eIF4E inhibitor), 200 mg/kg daily, P14-56: rescued C; ↓ seizuresMetformin, 200 mg/kg daily, P84-114: ↓ seizuresADK shRNA KD or 5-ITU (ADK inhibitor), 1 or 2.6 mg/kg, 2x daily for 10 days: ↓ seizuresKim et al., 2019
*mTOR A1459D (GOF)E14.5E18.5: M, CHanai et al., 2017
*mTOR C1483Y (GOF)E14E16, E18: M>P56: C>P21: Spontaneous seizures>P56: Defective ciliogenesis ↓ AutophagyRapamycin, 10 mg/kg daily,after seizure onset for 2 weeks: rescued C, ciliogenesis defectsOfd1 shRNA KD: rescued M, ciliogenesis defects; no rescue of C, seizuresWnt5a expression: rescued MPark et al., 2018
*mTOR C1483Y (GOF)E14E18, P7: MP21: CP21, L2/3 PN: ↓ Spine density>P21: Spontaneous seizuresE18: Translational dysregulationRapamycin, 5 mg/kg daily, E14-E17: rescued MeIF4E shRNA KD: rescued M, C, spine density; ↓ seizuresMetformin (eIF4E inhibitor), 200 mg/kg daily, P14-56: rescued C; ↓ seizuresMetformin, 200 mg/kg daily, P84-114: ↓ seizuresADK shRNA KD or 5-ITU (ADK inhibitor), 1 or 2.6 mg/kg, 2x daily for 10 days: ↓ seizuresKim et al., 2019
*mTOR C1483Y (GOF)E13.5, SSCE17.5: M, CTarkowski et al., 2019
*mTOR L1460P (GOF)E13.5, SSCE17.5: M, CTarkowski et al., 2019
*mTOR S2215Y (GOF)E13.5, SSCE17.5: M, CTarkowski et al., 2019
mTOR R2505P (GOF)E13.5, SSCE17.5: M, CTarkowski et al., 2019
mTOR L2427T (GOF)E13.5, SSCE17.5: MTarkowski et al., 2019
*mTOR S2215F (GOF)E15 (rat)E20: MP28: CPelorosso et al., 2019
Stradα (shRNA KD)E14E17, E19: MOrlova et al., 2010
Stradα (shRNA KD)E14E19: MRapamycin, 5mg/kg daily, E15-E19: rescued MParker et al., 2013
Depdc5(CRISPR/Cas9 KO)E14.5E18.5: MP21-P63: M, CP20-P24: DP20-P24, L2/3 PN:No change-Spine density ↑ Spine head width No change-sEPSC frequency ↑ sEPSC amplitude ↑ Capacitance ↓ Rinput ↓ I/O (= ↑ rheobase)>P21: Spontaneous seizuresRapamycin, 1 mg/kg single injection at E15: rescued MRibierre et al., 2018
Depdc5(CRISPR/Cas9 KO)E13-E14 (rat)P21-30: CP21-28, L2/3 PN: No change-RMP ↓ Rinput Doublet AP firing>P60: Spontaneous seizuresEverolimus, P10-21: rescued CHu et al., 2018
Depdc5floxed/mutant,Cre IUE, 2-hit modelE14.5P15: CP42: M, C, DP42:↓ Seizure thresholdDepdc5 WT or Depdc5 Q542P (GOF) expression: rescued CDepdc5 F164 del (LOF) expression: no rescue of CDawson et al., 2020
Nprl3(CRISPR/Cas9 KO)E14P3: M, C>P35: C>P35:↑ Cortical excitability↓ Seizure thresholdRapamycin, 1 mg/kg single injection at E15: rescued M, CIffland et al., 2020

The table is organized by position of genes in the PI3K-mTOR pathway and GATOR1 complex, variant, and date of publication. All gene variants activate mTORC1 signaling. Stars in front of gene name denote human de novo somatic (.

Three rows of cited work (Rheb S16H, Hsieh et al., 2020; Rheb P37L, Reijnders et al., 2017, and Rheb P37L, Onori et al., 2020) were omitted. Additionally, one of the cited studies (Rheb S16H) had the incorrect reference Zhang et al., 2019. Zhang, L., Huang, T., Teaw, S., and Bordey, A. (2019). Hypervascularization in mTOR-dependent focal and global cortical malformations displays differential rapamycin sensitivity. Epilepsia 60, 1255–1265. doi: 10.1111/epi.15969. Instead, it should be Zhang et al., 2020. Zhang, L., Huang, T., Teaw, S., Nguyen, L. H., Hsieh, L. S., Gong, X., et al. (2020). Filamin A inhibition reduces seizure activity in a mouse model of focal cortical malformations. Sci. Transl. Med. 12:eaay0289. doi: 10.1126/scitranslmed.aay0289. The corrected Table 1 appears below. Summary of IUE-based rodent models of mTORopathies. The table is organized by position of genes in the PI3K-mTOR pathway and GATOR1 complex, variant, and date of publication. All gene variants activate mTORC1 signaling. Stars in front of gene name denote human de novo somatic (. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated.
  33 in total

1.  Activating the translational repressor 4E-BP or reducing S6K-GSK3β activity prevents accelerated axon growth induced by hyperactive mTOR in vivo.

Authors:  Xuan Gong; Longbo Zhang; Tianxiang Huang; Tiffany V Lin; Laura Miyares; John Wen; Lawrence Hsieh; Angélique Bordey
Journal:  Hum Mol Genet       Date:  2015-07-28       Impact factor: 6.150

2.  Tracking and transforming neocortical progenitors by CRISPR/Cas9 gene targeting and piggyBac transposase lineage labeling.

Authors:  Fuyi Chen; Joel Rosiene; Alicia Che; Albert Becker; Joseph LoTurco
Journal:  Development       Date:  2015-09-23       Impact factor: 6.868

3.  Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.

Authors:  Sang Min Park; Jae Seok Lim; Suresh Ramakrishina; Se Hoon Kim; Woo Kyeong Kim; Junehawk Lee; Hoon-Chul Kang; Jeremy F Reiter; Dong Seok Kim; Hyongbum Henry Kim; Jeong Ho Lee
Journal:  Neuron       Date:  2018-06-21       Impact factor: 17.173

4.  Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.

Authors:  Sae Hanai; Sayuri Sukigara; Hongmei Dai; Tomoo Owa; Shin-Ichi Horike; Taisuke Otsuki; Takashi Saito; Eiji Nakagawa; Naoki Ikegaya; Takanobu Kaido; Noriko Sato; Akio Takahashi; Kenji Sugai; Yuko Saito; Masayuki Sasaki; Mikio Hoshino; Yu-Ichi Goto; Schuichi Koizumi; Masayuki Itoh
Journal:  Am J Pathol       Date:  2017-05       Impact factor: 4.307

5.  GABAergic Interneuron and Neurotransmission Are mTOR-Dependently Disturbed in Experimental Focal Cortical Dysplasia.

Authors:  Shaoping Zhong; Zhihao Zhao; Wanjing Xie; Yiying Cai; Yiying Zhang; Jing Ding; Xin Wang
Journal:  Mol Neurobiol       Date:  2020-09-10       Impact factor: 5.590

6.  Normalizing translation through 4E-BP prevents mTOR-driven cortical mislamination and ameliorates aberrant neuron integration.

Authors:  Tiffany V Lin; Lawrence Hsieh; Tomoki Kimura; Taylor J Malone; Angélique Bordey
Journal:  Proc Natl Acad Sci U S A       Date:  2016-09-19       Impact factor: 11.205

7.  Dendrite growth and the effect of ectopic Rheb expression on cortical neurons.

Authors:  Aidan M Sokolov; Caitlin M Seluzicki; Mary C Morton; David M Feliciano
Journal:  Neurosci Lett       Date:  2018-02-12       Impact factor: 3.046

8.  Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy.

Authors:  Ruby E Dawson; Alvaro F Nieto Guil; Louise J Robertson; Sandra G Piltz; James N Hughes; Paul Q Thomas
Journal:  Neurobiol Dis       Date:  2019-10-19       Impact factor: 5.996

9.  Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex.

Authors:  Uk Yeol Moon; Jun Young Park; Raehee Park; Jennifer Y Cho; Lucinda J Hughes; James McKenna; Laura Goetzl; Seo-Hee Cho; Peter B Crino; Michael J Gambello; Seonhee Kim
Journal:  Cell Rep       Date:  2015-07-30       Impact factor: 9.423

10.  Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement.

Authors:  Lawrence S Hsieh; John H Wen; Kumiko Claycomb; Yuegao Huang; Felicia A Harrsch; Janice R Naegele; Fahmeed Hyder; Gordon F Buchanan; Angelique Bordey
Journal:  Nat Commun       Date:  2016-06-01       Impact factor: 14.919

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  1 in total

Review 1.  Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives.

Authors:  Ge Wang; Wenyue Wu; Yuchen Xu; Zhuanyi Yang; Bo Xiao; Lili Long
Journal:  Front Mol Neurosci       Date:  2022-05-30       Impact factor: 6.261

  1 in total

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